Congenital Adrenal Hyperplasia: clinical symptoms and diagnostic methods

Podgórski, Rafał; Aebisher, David; Stompor, Monika; Podgórska, Dominika; Mazur, Artur

doi:10.18388/abp.2017_2343

Cited by 44 publications

(63 citation statements)

References 85 publications

(100 reference statements)

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“…Além das complicações graves com risco de morte nas formas clássicas da HAC, o hiperandrogenismo não tratado ou tratado incorretamente, causa virilização progressiva, aparecimento de pelos pubianos precocemente, maturação óssea avançada e puberdade precoce induzida em ambos os sexos. Assim, vale destacar o custo-benefício quando comparado ao tratamento tardio para bloqueio da puberdade, o qual possui um custo elevado (PODGÓRSKI R, et al, 2018).…”

Section: Resultsunclassified

A importância da triagem neonatal como diagnóstico precoce da hiperplasia adrenal congênita

Morais

Abreu

Silva

et al. 2020

BJHR

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Exames de triagem neonatal são realizados nos primeiros dias de vida do recém-nascido, ajudam a identificar precocemente algumas doenças e a prevenir futuras consequências. Dentre os exames realizados nessa triagem, disponíveis na Atenção Primária à Saúde, tem-se o teste do pezinho, o qual é fundamental para identificação de distúrbios, como a hiperplasia adrenal congênita (HAC). METODOLOGIA: Trata-se de uma revisão narrativa da literatura com busca nas bases de dados U.S National Library of Medicine (PubMed) e Scientific Eletronic Library Online (SciELO) utilizando os descritores "Adrenal Hyperplasia, Congenital" e "Neonatal Screening". RESULTADOS: Foram identificados seis artigos essenciais para o desenvolvimento deste estudo. Esses trabalhos ocorreram nos últimos três anos, sendo o ano de 2019 o de maior evidência. DISCUSSÃO: A hiperplasia adrenal congênita constitui-se como um grupo de doenças autossômicas recessivas que geram um comprometimento metabólico do cortisol e da aldosterona. Esta pode ser classificada em três tipos e cada uma se apresenta de uma forma no corpo. Nos casos mais graves, pode causar déficit cognitivo ou até a morte. CONCLUSÃO: A triagem neonatal é uma estratégia eficaz para o diagnóstico precoce da HAC e é benéfica no contexto da saúde pública e da qualidade de vida do paciente.

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Section: Resultsunclassified

A importância da triagem neonatal como diagnóstico precoce da hiperplasia adrenal congênita

Morais

Abreu

Silva

et al. 2020

BJHR

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“…Newborns with atypical external genitalia should undergo hormonal profile analysis prior to hospital discharge to avoid presentation with SW crisis [66,67]. Neonatal screening for 21OHD by detecting elevated level of 17OHP has been implemented in most developed countries [68].…”

Section: Neonatal Screeningmentioning

confidence: 99%

“…For follow-up children are treated with hydrocortisone in a dose of 10-15 mg/m 2 /day. Long-acting glucocorticoids such as dexamethasone and prednisolone, known to suppress growth in children, can be used during adulthood [7,33,67]. Compared to 21OHD it seems to be more difficult to suppress the androgens in 3βHSD2D, which could be speculated be due to the DHEAS as a constant source of DHEA, testosterone and DHT.…”

Section: Treatmentmentioning

confidence: 99%

“…This may result in a need for slightly higher doses of glucocorticoids in 3βHSD2D with subsequently more long-term negative outcomes. Mineralocorticoid replacement can be achieved with fludrocortisone 0.1 mg/day [33] with regular monitoring of plasma renin activity [1, 7, 67]. Sex hormone replacement therapy should be considered for patients who show delayed progression through puberty [16].…”

Section: Physiologymentioning

confidence: 99%

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Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

2019

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Purpose 3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) is a very rare variant of congenital adrenal hyperplasia (CAH) causing less than 0.5% of all CAH. The aim was to review the literature. Methods PubMed was searched for relevant articles. Results 3βHSD2D is caused by HSD3B2 gene mutations and characterized by impaired steroid synthesis in the gonads and the adrenal glands and subsequent increased dehydroepiandrosterone (DHEA) concentrations. The main hormonal changes observed in patients with 3βHSD2D are elevated ratios of the Δ5-steroids over Δ4-steroids but molecular genetic testing is recommended to confirm the diagnosis. Several deleterious mutations in the HSD3B2 gene have been associated with saltwasting (SW) crisis in the neonatal period, while missense mutations have been associated with a non-SW phenotype. Boys may have ambiguous genitalia, whereas girls present with mild or no virilization at birth. The existence of non-classic 3βHSD2D is controversial. In an acute SW crisis, the treatment includes prompt rehydration, correction of hypoglycemia, and parenteral hydrocortisone. Similar to other forms of CAH, glucocorticoid and mineralocorticoid replacement is needed for long-term management. In addition, sex hormone replacement therapy may be required if normal progress through puberty is failing. Little is known regarding possible negative long-term consequences of 3βHSD2D and its treatments, e.g., fertility, final height, osteoporosis and fractures, adrenal and testicular tumor risk, and mortality. Conclusion Knowledge is mainly based on case reports but many long-term outcomes could be presumed to be similar to other types of CAH, mainly 21-hydroxylase deficiency, although in 3βHSD2D it seems to be more difficult to suppress the androgens.

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“…Prenatal diagnosis of CAH in the embryo or fetus can be done by performing chorionic villus sampling (9–11th week of pregnancy) or amniocentesis (15–20th week of pregnancy) followed by genetic testing (28). Specific probes for 21-hydroxylase mutations allow direct and rapid identification of known mutations through the use of polymerase chain reaction (i.e., allele specific).…”

Section: Pregnancy In Cah Carriers and In Cah Patientsmentioning

confidence: 99%

Assisted Reproduction in Congenital Adrenal Hyperplasia

et al. 2019

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Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects of adrenal steroidogenesis due to mutations in one of the following enzymes: 21-hydroxylase (21OH), 11β-hydroxylase (11βOH), 17α-hydroxylase (17OH; also known as 17, 20-lyase), 3β hydroxysteroid dehydrogenase type 2 (3βHSD2), steroidogenic acute regulatory protein (StAR), P450 cholesterol side-chain cleavage (P450scc), and P450 oxidoreductase (POR). More than 95% of congenital adrenal hyperplasia cases are due to mutations in CYP21A2, the gene encoding the adrenal steroid 21-hydroxylase enzyme (P450c21). This work focuses on this type of CAH given that it is the most frequent one. This disease is characterized by impaired cortisol and aldosterone production as well as androgen excess. A variant of the CAH is the non-classic type of CAH (NCCAH), usually asymptomatic before the 5th year of age, diagnosed during puberty especially in patients visiting a fertility clinic. NCCAH is characterized mainly by anovulatory cycles and/or high androgen concentrations. Both types of CAH are associated with infertility. Given that the incidence of NCCAH is greater than that of CAH, patients suffering from NCCAH are more often diagnosed for the first time in a fertility clinic. Thus, screening for NCCAH should always be considered. The causes of infertility in CAH patients are multi-factorial including virilization of external genitalia, altered psychosocial development, and hormonal disorders. The main challenges encountered in assisted reproduction are the androgen excess-associated anovulatory cycles as well as the increased circulating progesterone concentrations during the follicular phase which impact endometrial receptivity, tubal motility, and cervical thickness. Administration of sufficient substitution dose of glucocorticoids usually resolves these problems and leads not only to successful assisted reproduction treatment but also to spontaneous pregnancy. Patients with CAH should be followed by a multidisciplinary team including gynecologist, endocrinologist, and pediatrician.

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Congenital Adrenal Hyperplasia: clinical symptoms and diagnostic methods

Cited by 44 publications

References 85 publications

A importância da triagem neonatal como diagnóstico precoce da hiperplasia adrenal congênita

A importância da triagem neonatal como diagnóstico precoce da hiperplasia adrenal congênita

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

Assisted Reproduction in Congenital Adrenal Hyperplasia

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